Mutagenetix > Incidental Mutation

Incidental Mutation 'R7298:Or6aa1'

566797

Institutional Source

Beutler Lab

Gene Symbol

Or6aa1

Ensembl Gene

ENSMUSG00000039608

Gene Name

olfactory receptor family 6 subfamily AA member 1

Synonyms

MOR104-2, Olfr303, GA_x6K02T2NHDJ-9712819-9713778

MMRRC Submission

045402-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7298 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86043704-86044743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86044131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 192 (T192S)

Ref Sequence

ENSEMBL: ENSMUSP00000148852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053958] [ENSMUST00000215234] [ENSMUST00000215532] [ENSMUST00000215733] [ENSMUST00000216409]

AlphaFold

Q8VFP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000053958
AA Change: T192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062459
Gene: ENSMUSG00000039608
AA Change: T192S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-52	PFAM
Pfam:7tm_1	41	307	4.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215234
AA Change: T192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215532
AA Change: T192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215733
AA Change: T192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216409
AA Change: T192S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,106 (GRCm39)	T51S	probably benign	Het
Abcc1	A	G	16: 14,214,336 (GRCm39)	D204G	possibly damaging	Het
Acaa1b	C	T	9: 118,980,915 (GRCm39)	E172K	probably benign	Het
Adamts5	G	A	16: 85,696,806 (GRCm39)	T117I	probably benign	Het
Agmat	A	G	4: 141,474,275 (GRCm39)	E52G	possibly damaging	Het
Alg9	C	T	9: 50,690,361 (GRCm39)	A121V	probably damaging	Het
Atf7ip2	T	C	16: 10,027,032 (GRCm39)	I100T	possibly damaging	Het
Calm2	T	C	17: 87,750,165 (GRCm39)		probably null	Het
Cfap44	A	T	16: 44,301,775 (GRCm39)	M1838L	probably benign	Het
Cym	A	G	3: 107,127,009 (GRCm39)	Y49H	probably benign	Het
Dchs1	G	A	7: 105,404,338 (GRCm39)	R2735*	probably null	Het
Dnajc6	T	C	4: 101,463,808 (GRCm39)	I187T	probably benign	Het
Fam151a	G	T	4: 106,592,725 (GRCm39)	R69L	possibly damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm9922	C	A	14: 101,966,961 (GRCm39)	G97V	unknown	Het
Hacl1	A	T	14: 31,338,443 (GRCm39)	M378K	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-82	A	T	12: 115,916,574 (GRCm39)	I6N	possibly damaging	Het
Kctd19	A	C	8: 106,109,616 (GRCm39)	V942G	probably benign	Het
Lce1l	C	T	3: 92,757,483 (GRCm39)	C125Y	unknown	Het
Mmp8	T	C	9: 7,560,449 (GRCm39)	F42S	probably damaging	Het
Myom2	T	C	8: 15,148,411 (GRCm39)	L529P	probably damaging	Het
Nectin3	A	T	16: 46,268,759 (GRCm39)	Y548N	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or4c12b	T	C	2: 89,646,865 (GRCm39)	F59S	probably damaging	Het
Otof	T	A	5: 30,545,614 (GRCm39)	I514F	probably damaging	Het
Pira12	T	A	7: 3,898,264 (GRCm39)	I353F	possibly damaging	Het
Plch1	G	T	3: 63,623,458 (GRCm39)	S603*	probably null	Het
Ppa1	T	A	10: 61,502,691 (GRCm39)	D171E	probably benign	Het
Pramel23	C	A	4: 143,425,075 (GRCm39)	D123Y	probably benign	Het
Prss34	T	C	17: 25,518,737 (GRCm39)	C240R	probably damaging	Het
Ptpre	A	G	7: 135,285,016 (GRCm39)	D714G	probably damaging	Het
Ranbp9	A	G	13: 43,633,936 (GRCm39)	F157L	probably benign	Het
Rbbp6	A	G	7: 122,600,417 (GRCm39)	K1475E	unknown	Het
Retnlg	A	G	16: 48,693,237 (GRCm39)	N5D	probably benign	Het
Rev1	T	C	1: 38,092,185 (GRCm39)	T1245A	probably damaging	Het
Rngtt	G	T	4: 33,362,927 (GRCm39)	L360F	probably damaging	Het
Scrib	A	C	15: 75,936,610 (GRCm39)	V447G	probably damaging	Het
Slc22a6	C	A	19: 8,598,684 (GRCm39)	A247E	possibly damaging	Het
Slc25a20	G	A	9: 108,539,343 (GRCm39)		probably benign	Het
Spag16	T	A	1: 69,958,585 (GRCm39)		probably null	Het
Stx3	C	T	19: 11,767,412 (GRCm39)	W87*	probably null	Het
Syngap1	T	A	17: 27,181,961 (GRCm39)	M1158K	possibly damaging	Het
Tmed9	C	A	13: 55,741,107 (GRCm39)	H41N	possibly damaging	Het
Trav15-2-dv6-2	G	A	14: 53,887,242 (GRCm39)	S54N	probably benign	Het
Tyk2	C	T	9: 21,020,156 (GRCm39)	V1001I	probably benign	Het
Ugt8a	A	G	3: 125,709,065 (GRCm39)	V15A	probably benign	Het
Uhrf2	A	G	19: 30,065,949 (GRCm39)	E661G	probably benign	Het
Vmn2r77	T	A	7: 86,449,979 (GRCm39)	I75N	probably benign	Het
Zfp346	T	G	13: 55,278,416 (GRCm39)	V258G	probably damaging	Het
Zfp87	T	A	13: 74,520,513 (GRCm39)	K188N	possibly damaging	Het
Zgrf1	C	A	3: 127,377,299 (GRCm39)	S848*	probably null	Het

Other mutations in Or6aa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02228:Or6aa1	APN	7	86,044,286 (GRCm39)	missense	possibly damaging	0.50
IGL02902:Or6aa1	APN	7	86,043,743 (GRCm39)	utr 3 prime	probably benign
IGL02937:Or6aa1	APN	7	86,043,798 (GRCm39)	missense	possibly damaging	0.89
BB001:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
BB011:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
R1455:Or6aa1	UTSW	7	86,043,803 (GRCm39)	missense	probably damaging	0.97
R1524:Or6aa1	UTSW	7	86,044,020 (GRCm39)	missense	probably benign	0.01
R1762:Or6aa1	UTSW	7	86,044,353 (GRCm39)	missense	probably damaging	0.97
R3014:Or6aa1	UTSW	7	86,043,884 (GRCm39)	missense	probably benign	0.19
R3027:Or6aa1	UTSW	7	86,043,761 (GRCm39)	missense	probably benign	0.00
R4073:Or6aa1	UTSW	7	86,044,155 (GRCm39)	missense	probably damaging	0.98
R4502:Or6aa1	UTSW	7	86,044,485 (GRCm39)	missense	possibly damaging	0.49
R4503:Or6aa1	UTSW	7	86,044,485 (GRCm39)	missense	possibly damaging	0.49
R4607:Or6aa1	UTSW	7	86,043,718 (GRCm39)	splice site	probably null
R4608:Or6aa1	UTSW	7	86,043,718 (GRCm39)	splice site	probably null
R7134:Or6aa1	UTSW	7	86,044,752 (GRCm39)	start gained	probably benign
R7827:Or6aa1	UTSW	7	86,043,765 (GRCm39)	nonsense	probably null
R7924:Or6aa1	UTSW	7	86,043,938 (GRCm39)	missense	probably damaging	1.00
R8160:Or6aa1	UTSW	7	86,044,473 (GRCm39)	missense	possibly damaging	0.61
R8294:Or6aa1	UTSW	7	86,044,487 (GRCm39)	missense	probably damaging	1.00
R9465:Or6aa1	UTSW	7	86,043,864 (GRCm39)	missense	probably benign	0.00
R9725:Or6aa1	UTSW	7	86,043,973 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTACTGTGAGATGGGAGGC -3'
(R):5'- TAGCAGTTATGGCTTATGACAGG -3'

Sequencing Primer
(F):5'- GGCACAAGTTGAGAATGTTTTCTTCC -3'
(R):5'- GCTTATGACAGGCATGTGGC -3'

Posted On

2019-06-26